Fragile X Syndrome
What is Fragile X Syndrome?
Fragile X syndrome is a genetic condition affecting around 1 in 3600 boys and 1 in 4000 girls worldwide.
What causes Fragile X syndrome?
Fragile X syndrome is a caused by a mutation of the DNA. This mutation leads to a repetition of the bases CGG present on the Fragile X Mental Retardation 1 (FMR1) of the X chromosome. Abnormal multiplication of CGG bases causes a failure to manufacture the Fragile X Mental Retardation Protein (FMRP). The absence of FMRP leaves the nervous system and brain of the baby in an underdeveloped state.
What are the signs and symptoms of Fragile X syndrome?
Fragile X syndrome leads to a variety of symptoms including:
Physical Changes
· Long face
· Extra large ears
· Super flexible finger joints
· Extremely weak muscles and loss of tone
· Flat feet (no arch under feet)
Mental Changes
· Variable range of IQ ( from normal to severe disability)
· Features of autism, including difficulty having proper conversations.
· Social anxiety (poor eye contact and avoiding human interaction)
· Memory impairment
How is Fragile X syndrome diagnosed?
There are two ways to diagnose Fragile X syndrome:
· The signs and symptoms of this condition such as extra large ears.
· Looking the genetic makeup of the individual to figure out the number of repetitions of CGG on the X chromosome.
How is Fragile X syndrome managed?
Unfortunately there is no cure for the genetic mutation leading to Fragile X syndrome. However, the symptoms of this condition can be managed.
Management methods include:
· Medications, mood stabilisers and antidepressants are administered to reduce the anxiety and impulsiveness.
· Behavioural therapy is necessary to boost to the confidence of the individual and makes peer interaction easier.
· Speech Therapy is also recommended as children with Fragile X syndrome may have difficulties expressing themselves.
· Surgical treatment may be considered as an option for physical abnormalities.
